This variant was associated with a lack of freckles in Europeans (OR 1.3) but had not significant associations with eye color, hair color, or sun sensitivity. The variant (the “A” allele) appears to have undergone strong positive selection in Europeans.

A study of South Asians found this variant significantly associated with lighter skin. Participants were split into quintiles based on skin reflectence and the highest vs. lowest compared, this variant had an odds ratio of 4-5 for the lighter skin group, 6.5 * 10^-11